E-LIB Suche - Ergebnisse für: Pérez de Nanclares, Guiomar

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A Protein Misfolding Shaking Amplification-based method for..:

Eraña, Hasier ; Sampedro-Torres-Quevedo, Cristina ; Charco, Jorge M...
info:eu-repo/semantics/altIdentifier/doi/10.1038/S41467-024-46360-2. , 2024

Link: https://investigacion.un..

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The Human Phenotype Ontology in 2024: phenotypes around the..:

Gargano, Michael A ; Matentzoglu, Nicolas ; Coleman, Ben...
https://discovery.ucl.ac.uk/id/eprint/10189754/1/The%20Human%20Phenotype%20Ontology%20in%202024%20phenotypes%20around%20the%20world.pdf. , 2024

Link: https://discovery.ucl.ac..

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The Human Phenotype Ontology in 2024: phenotypes around the..:

Gargano, Michael A ; Matentzoglu, Nicolas ; Coleman, Ben...
10.1093/nar/gkad1005. , 2024

Link: https://hdl.handle.net/1..

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A Protein Misfolding Shaking Amplificationbased method for ..:

Eraña, Hasier ; Sampedro-Torres-Quevedo, Cristina ; Charco, Jorge M...
Nature Communications. , 2024

Link: https://hdl.handle.net/2..

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Recomendaciones nutricionales para pacientes con seudohipop..:

Miñones-Suarez, Lorena ; Perez de Nanclares, Guiomar ; Marín del Barrio, Silvia...
Anales de Pediatría;99(2). , 2023

Link: https://hdl.handle.net/1..

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Pseudohipoparatiroidismo hereditario u osteodistrofia hered..:

Sarrion Sos, Nerea ; Martínez Sebastián, Laura ; Alcón Saez, José Juan..
http://saber.ucv.ve/ojs/index.php/revista_avpp/article/view/25286/144814491361. , 2023

Link: http://190.169.94.12/ojs..

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Genomic and phenotypic characterization of 404 individuals ..:

Kayumi, Sayaka ; Pérez-Jurado, Luis A ; Palomares, María...
1098-3600. , 2022

Link: https://dspace.library.u..

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Novel genetic variants of KHDC3L and other members of the s..:

Pignata, Laura ; Cecere, Francesco ; Verma, Ankit...
Instituto de Salud Carlos III PI20/00950. , 2022

Link: https://ddd.uab.cat/reco..

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Novel genetic variants of KHDC3L and other members of the s..:

Pignata, Laura ; Cecere, Francesco ; Verma, Ankit...
Reproducció del document publicat a: https://doi.org/10.1186/s13148-022-01292-w. , 2022

Link: http://hdl.handle.net/24..

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Genomic and phenotypic characterization of 404 individuals ..:

Kayumi, Sayaka ; Pérez-Jurado, Luis A ; Palomares, María...
Kayumi, S., Pérez-Jurado, L. A., Palomares, M., Rangu, S., Sheppard, S. E., Chung, W. K., Kruer, M. C., Kharbanda, M., Amor, D. J., McGillivray, G., Cohen, J. S., García-Miñaúr, S., van Eyk, C. L., Harper, K., Jolly, L. A., Webber, D. L., Barnett, C. P., Santos-Simarro, F., Pacio-Míguez, M., … Corbett, M. A. (2022). Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genetics in Medicine, 24(11), 2351–2366.. , 2022

Link: http://hdl.handle.net/10..

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